ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 3

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala) rs146610448 0.00093
NM_001010874.5(TECRL):c.172A>G (p.Thr58Ala) rs189087821 0.00021
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter) rs539578837 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00002
NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter) rs778546497 0.00001
NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter) rs200472348 0.00001
NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter) rs974725975 0.00001
NM_001010874.5(TECRL):c.1009del (p.Ala337fs) rs1461307621
NM_001010874.5(TECRL):c.236T>C (p.Val79Ala) rs1285659878
NM_001010874.5(TECRL):c.271_272del (p.Lys91fs) rs2475720206
NM_001010874.5(TECRL):c.331+1G>A rs1057517699
NM_001010874.5(TECRL):c.395_408dup (p.Leu137fs) rs1171171393
NM_001010874.5(TECRL):c.742_758del (p.Arg248fs) rs2109973501
NM_001010874.5(TECRL):c.918+3A>G rs958406908
NM_001010874.5(TECRL):c.964+15T>A

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